Opportunities and Limitations of Modern High Throughput Sequencing in Invasive Prenatal Diagnostics

Abstract

Prenatal diagnostics are used to identify the causes of fetal anomalies detected on ultrasound. If ultrasound findings appear to indicate a genetic disorder, sequencing methods offer the opportunity to safely diagnose numerous genetic disorders prenatally with the help of diagnostic puncture and aspiration. Depending on the type of ultrasound abnormality, massive parallel sequencing (MPS) (the terms “high throughput sequencing” and “next generation sequencing” [NGS] are often used synonymously) can identify up to 50% of the causes of fetal malformations (skeletal abnormalities). Confirmation of a genetic disorder makes it possible to inform and advise pregnant women or parents who are looking for advice about the expected development of their unborn child and provides a science-based assessment of the risk of recurrence. This review article describes the benefits and special features of prenatal diagnostic tests using next generation sequencing and looks ahead at the developments in molecular genetic diagnostic procedures which may be used for the prenatal confirmation of genetic disorders in the future.

Keywords

embryo - embryonic period - fetal period - genetics - inheritance - malformation

Publikationsverlauf

Eingereicht: 26. September 2024

Angenommen nach Revision: 25. März 2025

Artikel online veröffentlicht:
11. Juli 2025

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